Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
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- 作者：Chunyun Fua ; b ; 1 ; Shiyu Luoa ; b ; 1 ; Shujie Zhanga ; b ; Jin Wanga ; b ; Haiyang Zhenga ; b ; Qi Yanga ; b ; Bobo Xiea ; b ; Xuyun Hua ; b ; Xin Fana ; b ; Jingsi Luoa ; b ; Rongyu Chena ; b ; Jiasun Sua ; b ; Yiping Shena ; c ; Xuefan Gud ; gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author ; Shaoke Chena ; b ; chenshaoke123@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Subclinical congenital hypothyroidism ; Dual oxidase 2 gene (DUOX2) ; Gene mutations ; Next-generation sequencing ; Chinese population
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 July 2016
- 年：2016
- 卷：458
- 期：Complete
- 页码：30-34
- 全文大小：879 K
文摘
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We provided the best estimation of the DUOX2 mutation rate (29%) for CH/SCH patients in Guangxi, China.
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Most one or two DUOX2 pathogenic variants turned out to be SCH or TCH.
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Patients with three or more DUOX2 pathogenic variants were mostly associated with PCH.
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The coexistence of multiple pathogenic variants may have contributed to the severity of the hypothyroid condition.
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We reported 8 novel variants in DUOX2 and one novel variant in TG.